Baykal T - Search Results

1

Seventeen novel mutations that cause profound biotinidase deficiency.

Wolf B, Jensen K, Hüner G, Demirkol M, Baykal T, Divry P, Rolland MO, Perez-Cerdá C, Ugarte M, Straussberg R, Basel-Vanagaite L, Baumgartner ER, Suormala T, Scholl S, Das AM, Schweitzer S, Pronicka E, Sykut-Cegielska J. Wolf B, et al. Among authors: baykal t. Mol Genet Metab. 2002 Sep-Oct;77(1-2):108-11. doi: 10.1016/s1096-7192(02)00149-x. Mol Genet Metab. 2002. PMID: 12359137

2

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Wolf B, Jensen KP, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, Slonim AE. Wolf B, et al. Among authors: baykal t. Hum Mutat. 2005 Apr;25(4):413. doi: 10.1002/humu.9329. Hum Mutat. 2005. PMID: 15776412

3

Incidence of biotinidase deficiency in Turkish newborns.

Baykal T, Hüner G, Sarbat G, Demirkol M. Baykal T, et al. Acta Paediatr. 1998 Oct;87(10):1102-3. doi: 10.1080/080352598750031518. Acta Paediatr. 1998. PMID: 9825985 No abstract available.

4

Novel mutations cause biotinidase deficiency in Turkish children.

Pomponio RJ, Coskun T, Demirkol M, Tokatli A, Ozalp I, Hüner G, Baykal T, Wolf B. Pomponio RJ, et al. Among authors: baykal t. J Inherit Metab Dis. 2000 Mar;23(2):120-8. doi: 10.1023/a:1005609614443. J Inherit Metab Dis. 2000. PMID: 10801053 Clinical Trial.

5

Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.

Baykal T, Gokcay G, Gokdemir Y, Demir F, Seckin Y, Demirkol M, Jensen K, Wolf B. Baykal T, et al. J Inherit Metab Dis. 2005;28(6):903-12. doi: 10.1007/s10545-005-0161-3. J Inherit Metab Dis. 2005. PMID: 16435182

6

Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.

Hüner G, Podskarbi T, Schütz M, Baykal T, Sarbat G, Shin YS, Demirkol M. Hüner G, et al. Among authors: baykal t. J Inherit Metab Dis. 1998 Jun;21(4):445-6. doi: 10.1023/a:1005339616074. J Inherit Metab Dis. 1998. PMID: 9700612 No abstract available.

7

Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2.

Spiekerkoetter U, Huener G, Baykal T, Demirkol M, Duran M, Wanders R, Nezu J, Mayatepek E. Spiekerkoetter U, et al. Among authors: baykal t. J Inherit Metab Dis. 2003;26(6):613-5. doi: 10.1023/a:1025968502527. J Inherit Metab Dis. 2003. PMID: 14605509

8

Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.

Huner G, Baykal T, Demir F, Demirkol M. Huner G, et al. Among authors: baykal t. J Inherit Metab Dis. 2005;28(4):457-65. doi: 10.1007/s10545-005-0457-3. J Inherit Metab Dis. 2005. PMID: 15902548

9

Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).

Romstad A, Kalkanoğlu HS, Coşkun T, Demirkol M, Tokatli A, Dursun A, Baykal T, Ozalp I, Guldberg P, Güttler F. Romstad A, et al. Among authors: baykal t. Hum Genet. 2000 Dec;107(6):546-53. doi: 10.1007/s004390000407. Hum Genet. 2000. PMID: 11153907

10

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gökçay G, Baykal T, Thöny B, Demirkol M, Blau N. Dobrowolski SF, et al. Among authors: baykal t. Mol Genet Metab. 2011 Feb;102(2):116-21. doi: 10.1016/j.ymgme.2010.11.158. Epub 2010 Nov 18. Mol Genet Metab. 2011. PMID: 21147011

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